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Aliases for PI3 Gene

Aliases for PI3 Gene

  • Peptidase Inhibitor 3 2 3 4 5
  • Skin-Derived Antileukoproteinase 2 3 4
  • Protease Inhibitor 3, Skin-Derived (SKALP) 2 3
  • WAP Four-Disulfide Core Domain Protein 14 3 4
  • Peptidase Inhibitor 3, Skin-Derived 2 3
  • Elastase-Specific Inhibitor 3 4
  • Protease Inhibitor WAP3 3 4
  • Trappin-2 2 3
  • WFDC14 3 4
  • SKALP 3 4
  • PI-3 3 4
  • WAP3 3 4
  • ESI 3 4
  • WAP Four-Disulfide Core Domain 14 3
  • Pre-Elafin 3
  • Cementoin 3
  • Elafin 3

External Ids for PI3 Gene

Previous GeneCards Identifiers for PI3 Gene

  • GC20P043531
  • GC20P044441
  • GC20P044489
  • GC20P044490
  • GC20P043236
  • GC20P043803
  • GC20P040545

Summaries for PI3 Gene

Entrez Gene Summary for PI3 Gene

  • This gene encodes an elastase-specific inhibitor that functions as an antimicrobial peptide against Gram-positive and Gram-negative bacteria, and fungal pathogens. The protein contains a WAP-type four-disulfide core (WFDC) domain, and is thus a member of the WFDC domain family. Most WFDC gene members are localized to chromosome 20q12-q13 in two clusters: centromeric and telomeric. This gene belongs to the centromeric cluster. Expression of this gene is upgulated by bacterial lipopolysaccharides and cytokines. [provided by RefSeq, Oct 2014]

GeneCards Summary for PI3 Gene

PI3 (Peptidase Inhibitor 3) is a Protein Coding gene. Diseases associated with PI3 include Erysipelas and Pustular Psoriasis. Among its related pathways are Keratinization and Innate Immune System. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase inhibitor activity and peptidase inhibitor activity.

UniProtKB/Swiss-Prot for PI3 Gene

  • Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.

Gene Wiki entry for PI3 Gene

Additional gene information for PI3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PI3 Gene

Genomics for PI3 Gene

GeneHancer (GH) Regulatory Elements for PI3 Gene

Promoters and enhancers for PI3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I045173 Promoter/Enhancer 1.2 EPDnew ENCODE 550.8 +0.0 10 2.6 FOXA2 JUN MAX RAD21 TEAD3 POLR2A SMC3 SMARCC2 RCOR1 NFE2L2 PI3 SLPI LOC101929866
GH20I045832 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.1 +659.7 659665 4.3 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PAF1 SP3 SNX21 TNNC2 WFDC3 CD40 PCIF1 NCOA5 SYS1 PI3 PIR61038
GH20I045811 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 4.9 +637.8 637767 2.5 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ELK1 ZNF207 FOS UBE2C WFDC3 NCOA5 TP53RK ZNF335 PCIF1 SPATA25 ENSG00000271984 CD40 DNTTIP1
GH20I045829 Enhancer 0.8 dbSUPER 4.5 +655.5 655467 1.1 ELF3 FOXA2 ARID4B THRB RARA ZNF121 THAP11 CEBPB NFYC PPARG WFDC3 SNX21 PI3 TNNC2 UBE2C
GH20I044698 Enhancer 0.6 FANTOM5 dbSUPER 4.7 -476.3 -476281 0.3 STAT1 TCF7L2 ADA PI3 PABPC1L KCNK15 ENSG00000132832 WISP2 KCNK15-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PI3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PI3 gene promoter:

Genomic Locations for PI3 Gene

Genomic Locations for PI3 Gene
chr20:45,174,876-45,176,544
(GRCh38/hg38)
Size:
1,669 bases
Orientation:
Plus strand
chr20:43,803,517-43,805,185
(GRCh37/hg19)

Genomic View for PI3 Gene

Genes around PI3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PI3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PI3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PI3 Gene

Proteins for PI3 Gene

  • Protein details for PI3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19957-ELAF_HUMAN
    Recommended name:
    Elafin
    Protein Accession:
    P19957
    Secondary Accessions:
    • E1P618
    • Q6FG74

    Protein attributes for PI3 Gene

    Size:
    117 amino acids
    Molecular mass:
    12270 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PI3 Gene

neXtProt entry for PI3 Gene

Post-translational modifications for PI3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PI3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PI3 Gene

Domains & Families for PI3 Gene

Gene Families for PI3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for PI3 Gene

Suggested Antigen Peptide Sequences for PI3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19957

UniProtKB/Swiss-Prot:

ELAF_HUMAN :
  • Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
Domain:
  • Consists of two domains: the transglutaminase substrate domain (cementoin moiety) and the elastase inhibitor domain. The transglutaminase substrate domain serves as an anchor to localize elafin covalently to specific sites on extracellular matrix proteins.
genes like me logo Genes that share domains with PI3: view

Function for PI3 Gene

Molecular function for PI3 Gene

GENATLAS Biochemistry:
elafin,serine proteinase inhibitor,epidermal,member of the troppin family,induced in epidermis by cellular stress,involved in the regulation of inflammation and in protection against tissue damage,regulated by neutrophil elastase in type II alveolar epithelial cells
UniProtKB/Swiss-Prot Function:
Neutrophil and pancreatic elastase-specific inhibitor of skin. It may prevent elastase-mediated tissue proteolysis.

Phenotypes From GWAS Catalog for PI3 Gene

Gene Ontology (GO) - Molecular Function for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004866 endopeptidase inhibitor activity TAS 2394696
GO:0004867 serine-type endopeptidase inhibitor activity TAS,IEA --
GO:0030280 structural constituent of epidermis IDA 7543090
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with PI3: view
genes like me logo Genes that share phenotypes with PI3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PI3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PI3 Gene

Localization for PI3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PI3 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PI3 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2
lysosome 2
endosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix TAS 8476637
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with PI3: view

Pathways & Interactions for PI3 Gene

genes like me logo Genes that share pathways with PI3: view

Gene Ontology (GO) - Biological Process for PI3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007620 copulation IEA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0010951 negative regulation of endopeptidase activity IEA --
GO:0018149 peptide cross-linking IDA 7543090
GO:0019730 antimicrobial humoral response TAS --
genes like me logo Genes that share ontologies with PI3: view

No data available for SIGNOR curated interactions for PI3 Gene

Drugs & Compounds for PI3 Gene

(15) Drugs for PI3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for PI3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PI3: view

Transcripts for PI3 Gene

mRNA/cDNA for PI3 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(132) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PI3 Gene

Peptidase inhibitor 3, skin-derived:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PI3

Alternative Splicing Database (ASD) splice patterns (SP) for PI3 Gene

No ASD Table

Relevant External Links for PI3 Gene

GeneLoc Exon Structure for
PI3
ECgene alternative splicing isoforms for
PI3

Expression for PI3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PI3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PI3 Gene

This gene is overexpressed in Esophagus - Mucosa (x22.7), Vagina (x12.3), and Whole Blood (x7.6).

Protein differential expression in normal tissues from HIPED for PI3 Gene

This gene is overexpressed in Cervix (33.8) and Oral epithelium (20.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PI3 Gene



Protein tissue co-expression partners for PI3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PI3 Gene:

PI3

SOURCE GeneReport for Unigene cluster for PI3 Gene:

Hs.112341

Evidence on tissue expression from TISSUES for PI3 Gene

  • Skin(4.6)
  • Nervous system(4.3)
  • Intestine(3.1)
  • Lung(2.7)
  • Blood(2.6)
genes like me logo Genes that share expression patterns with PI3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PI3 Gene

Orthologs for PI3 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PI3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PI3 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia PI3 33 34
  • 76.95 (n)
cow
(Bos Taurus)
Mammalia -- 34
  • 50 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
PI3 34
  • 43 (a)
OneToMany
Species where no ortholog for PI3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PI3 Gene

ENSEMBL:
Gene Tree for PI3 (if available)
TreeFam:
Gene Tree for PI3 (if available)

Paralogs for PI3 Gene

No data available for Paralogs for PI3 Gene

Variants for PI3 Gene

Sequence variations from dbSNP and Humsavar for PI3 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000422977 -- 45,172,932(+) G/A upstream_transcript_variant
rs1000706722 -- 45,173,660(+) C/G upstream_transcript_variant
rs1000843291 -- 45,176,889(+) G/A downstream_transcript_variant
rs1000880259 -- 45,173,304(+) T/C upstream_transcript_variant
rs1001241371 -- 45,175,168(+) GTGGACTCCACGTG/GTG intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PI3 Gene

Variant ID Type Subtype PubMed ID
nsv1056102 CNV loss 25217958

Variation tolerance for PI3 Gene

Residual Variation Intolerance Score: 76.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.03; 60.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PI3 Gene

Human Gene Mutation Database (HGMD)
PI3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PI3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PI3 Gene

Disorders for PI3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for PI3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PI3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PI3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PI3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PI3 Gene

Publications for PI3 Gene

  1. Genetic polymorphisms of peptidase inhibitor 3 (elafin) are associated with acute respiratory distress syndrome. (PMID: 19251943) Tejera P … Christiani DC (American journal of respiratory cell and molecular biology 2009) 3 22 44 58
  2. SKALP/elafin gene polymorphisms are not associated with pustular forms of psoriasis. (PMID: 9727750) Kuijpers AL … Schalkwijk J (Clinical genetics 1998) 3 22 44 58
  3. Assignment of the human gene encoding the epidermal serine proteinase inhibitor SKALP (PI3) to chromosome region 20q12-->q13. (PMID: 8287685) Molhuizen HO … Schalkwijk J (Cytogenetics and cell genetics 1994) 2 3 22 58
  4. SKALP/elafin: an elastase inhibitor from cultured human keratinocytes. Purification, cDNA sequence, and evidence for transglutaminase cross-linking. (PMID: 7685029) Molhuizen HO … Schalkwijk J (The Journal of biological chemistry 1993) 3 4 22 58
  5. Characterization and gene sequence of the precursor of elafin, an elastase-specific inhibitor in bronchial secretions. (PMID: 8476637) Sallenave JM … Silva A (American journal of respiratory cell and molecular biology 1993) 3 4 22 58

Products for PI3 Gene

  • Addgene plasmids for PI3

Sources for PI3 Gene

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